ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
PA2580126515
Gene: PKP1
HGNC
NCBI
Linked Data
ClinVar Variation Id:
2101860
ClinVar RCV Id:
RCV003026244
JSON-LD
Amino-acid Alleles
HGVS (amino-acid)
Matching Registered Transcripts
NP_001005337.1:p.Leu295Phe
CA344178100
NM_001005337.3:c.883C>T